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At least 1,063 records · Page 59Linked to original sources

PubMed2003

Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males.

OBJECTIVE: To assess whether to perform routine cytogenetic and Y chromosome microdeletion screening on all infertile male patients. DESIGN: A cytogenetic and Y microdeletion study of a random group of infertile men. SETTING: University department. PATIENT(S): In total, 40 patients had azoospermia (21 nonidiopathic), 27 had severe oligozoospermia/oligoasthenozoospermia (<or=5 x 10(6)/mL) (5 nonidiopathic), 20 had oligozoospermia/oligoasthenozoospermia (5-20 x 10(6)/mL) (6 nonidiopathic), and 16 had asthenozoospermia (5 nonidiopathic). Many were candidates for intracytoplasmic sperm injection (ICSI). INTERVENTION(S): Collection of blood samples from all patients and buccal cells from one patient. MAIN OUTCOME MEASURE(S): Karyotype analysis, polymerase chain reaction (PCR) screening for Y chromosome microdeletions, and fluorescence in situ hybridization of abnormal chromosomes. RESULT(S): Ten (9.7%) subjects, including one nonidiopathic patient, were found to have an abnormal karyotype. Two idiopathic azoospermic patients were missing large portions of Y chromosome euchromatin, confirmed by PCR analysis and an additional idiopathic azoospermic patient had a Y chromosome microdeletion. CONCLUSION(S): Routine cytogenetic analysis of all infertile male patients is required but it may be advisable to limit routine Y chromosome microdeletion screening to patients with severe male factor infertility (<or=5 x 10(6)/mL).

Chromosome Deletion↗

PubMed1998

Correlations between DNA and cytogenetic damage induced after chemical treatment and radiation.

The induction of damage in human lymphocytes has been compared after treatment in vitro with two different agents, the chemical o-phenylenediamine (o-PDA) and gamma irradiation, in the alkaline single cell gel electrophoresis (Comet) assay, and after cytogenetic analysis. The chemical treatment caused dose-related increases in DNA damage in the Comet assay and cytogenetic damage in the first and second metaphases. The results revealed a very strong association between the two types of damage. Correlation coefficients were from 0.95 to 0.97. From previous studies, high correlation coefficients of 0.99 and 0.97 in the same assays were also evaluated for X-rays and fast neutrons, respectively. On the basis of such results, we suggest that the Comet assay responses provide a good prediction of cytogenetic damage. Thus, because of its simplicity and rapidity, the Comet assay would appear to be a very useful tool for determining the genotoxicity of environmental agents.

Chromosome Aberrations↗

PubMed2002

Primary myelodysplastic syndrome with normal cytogenetics: utility of 'FISH panel testing' and M-FISH.

The myelodysplastic syndromes (MDS) are a clinically heterogeneous group of hematologic disorders. Cytogenetic analysis is crucial as it can provide both diagnostic and prognostic information. Herein, 32 cytogenetically normal patients with primary MDS were analyzed both by multiple FISH probes on interphase nuclei (FISH panel testing) and by M-FISH (metaphase nuclei). One patient had a chromosome 13q-arm deletion, while the remaining 31 patients had normal results. These findings confirm standard cytogenetics as an excellent technique in identifying the common chromosomal abnormalities associated with MDS and suggest limited utility for either a FISH panel test or M-FISH in primary MDS.

Anemia, Refractory, with Excess of Blasts↗

PubMed1998

Molecular features of primary MDS with cytogenetic changes.

Cytogenetic changes in primary myelodysplastic syndromes (MDS) have been extremely useful to identify clonality and to define specific clinico-pathological entities. More recently, with the development of DNA technology, a bulk of new information has been added to classical cytogenetics. Genes corresponding to chromosomal breakpoints implicated in reciprocal translocations have been cloned. Search for the minimal lost region has been the aim of the so-called deletion mapping approach to pick up the hypothetical suppressor gene(s) critical for typical deletions of MDS. Correlation has been found between gene mutations, deletions, expression, and clinical-hematological or cytogenetic features of MDS. Integration of fluorescence in situ hybridization at DNA level and of immunophenotyping at cellular level is an elegant tool to investigate clonal affiliation in MDS with distinct genetic changes.

Chromosome Aberrations↗

PubMed1999

Correlation between lower c-mpl protein expression and favorable cytogenetic groups in acute myeloid leukemia.

The gene for the thrombopoietin receptor, c-mpl, has been shown to be overexpressed at the mRNA level in acute myeloid leukemia (AML) and myelodysplastic syndrome. A recent study reported c-mpl mRNA overexpression in 60% of a small sample of AML patients, and this overexpression correlates with shorter complete remission but not with karyotype group. We quantified c-mpl protein expression in 107 cases of AML and 24 normal bone marrow and 12 normal peripheral blood samples by using Western blot analysis and radioimmunoassay (RIA). Western blot analysis revealed no detectable level of c-mpl protein in the normal samples, whereas trace amounts were detected by RIA. c-mpl protein expression was increased (> or = twice normal) in 65% of the AML cases. c-mpl protein expression was correlated with cytogenetic groups (P = 0.0009, Kruskal-Wallis test in rejecting the hypothesis that c-mpl expression was the same in different groups). Specifically, patients with favorable cytogenetic groups (t(8;21), inv16, and t(15;17)) had lower c-mpl protein expression (median 1.7 times normal), whereas patients with unfavorable abnormalities (+8, -5 or -7, and del(11)(q23)) and normal cytogenetics had high expression (3.1 and 2.85 times normal, respectively). The findings were the same when only the 61 untreated AML patients were considered. No statistically significant correlation between c-mpl expression and age or antecedent hematologic disorder was found. These results suggest that c-mpl protein overexpression in AML may play a role in the aggressiveness of this disease.

Blotting, Western↗

PubMed1996

Protective role of soybean feeding against the cytogenetical and histopathological effects of dibutylamine and sodium nitrate on bone marrow and liver of mice.

The protective role of soybean feeding against the cytogenetic and histopathologic effects of the nitrosamine precursors sodium nitrate and dibutylamine was evaluated. Treated animals were killed every 3 months, over a period of 15 months, and bone marrow cells were prepared for cytogenetic studies and livers for histopathological observations. Structural chromosomal aberrations and mitotic indices increased after treatment with the nitrosamine precursors for all tested times. Livers were within the normal appearance during the first 6 months. After that a mild, moderate, marked dysplasia with lymphocytic infiltration, fatty vacuolation and liver atrophy was observed. Soybean coadministered with the nitrosamine precursors reduced the number of structural chromosomal aberrations. Mitotic indices decreased at all tested groups but still higher than the control level. A marked reduction in dysplastic features in the liver cells was observed. In conclusion, the cytogenetic and histopathologic results of this study strongly support the protective role of soybean against the genotoxic and carcinogenic action of nitrosomine formed in vivo from its precursors.

Animal Feed↗

PubMed2001

Nonrandom chromosome changes in Kaposi sarcoma: cytogenetic and FISH results in a new cell line (KS-IMM) and literature review.

The karyotype of a new tumorigenic Kaposi sarcoma (KS)-derived cell line, as defined by cytogenetic and fluorescence in situ hybridization (FISH) analysis is 49,XY,i(1)(q10),i(7)(p10),+i(7) (q10),+der(8)t(8;13)(p11;q11),-13,+del(14)(q22),+der(17)t(1;17)(p13;p13). Our aim was to point out some characteristics and recurrent chromosome changes probably playing a relevant role in the malignant progression of KS, by a comparison of the cytogenetic results obtained in the present study with data from the literature. The interpretation of the cytogenetic results is that KS development occurs by multiple steps: an initial reactive polyclonal cell proliferation is associated with chromosome instability; the cells in a later stage acquire clonal chromosome changes. If many chromosome changes are present, particularly 8q and 1q trisomy, 3p14-->pter deletion, 1p13, 13p14.3, 7q22, 8p11, 13q11, and 19q13 band rearrangements, KS acquires a neoplastic aggressive state.

Chromosome Aberrations↗

PubMed2000

Trisomy 4 and double minutes in acute myeloid leukemia: further evidence that double minutes can occur as the primary cytogenetic abnormality.

The specific association of trisomy 4 and double minutes (dmin) is rare and is usually reported in patients with acute myeloid leukemia (AML), primarily M2 and M4 subtypes. Several previous reports describing this combination suggested that trisomy 4 was the primary cytogenetic abnormality, and that the presence of the dmin was secondary. We describe a 79-year-old male who presented with myelodysplasia, transforming to AML-M2. Cytogenetic analysis of bone marrow aspirate cultures showed a 46,XY,dmin[12]/47,XY,+4,dmin[7]/46, XY[6] karyotype. The number of dmin ranged from 1 to 150. Fluorescence in situ hybridization (FISH) analysis showed that the dmin were derived from amplification of the MYC oncogene. Dual-color interphase FISH analysis was performed with D4Z1 and MYC probes and showed no evidence of a clone containing trisomy 4 without dmin. These data suggest that dmin may also occur as the primary cytogenetic abnormality in patients with trisomy 4 and dmin.

Acute Disease↗

PubMed2001

Trisomy 8 and monosomy 7 detected in bone marrow using primed in situ labeling, fluorescence in situ hybridization, and conventional cytogenetic analyses. A study of 54 cases with hematological disorders.

Trisomy 8 and monosomy 7 are the two most frequent aneuploidies found in hematological disorders such as myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). In this study, primed in situ labeling (PRINS), fluorescence in situ hybridization (FISH) and conventional cytogenetic approaches were used to investigate 54 cases of hematopoietic disorders. Of these cases, there were 22 cases of trisomy 8, 2 cases of tetrasomy 8, 14 cases of monosomy 7, and 16 cases with two copies of both chromosomes 7 and 8. PRINS was carried out in interphase nuclei of bone marrow samples using primers that can specifically detect alpha-satellite DNA sequences of chromosomes 7 and 8. In parallel, using the alpha-satellite probes for chromosomes 7 and 8, FISH was performed for all the cases. PRINS and FISH techniques showed similar specificity and sensitivity. In comparison to FISH, PRINS is more advantageous since it is a faster, easier, and more cost-effective technique. Additionally, for most of the cases, a higher proportion of aneuploidy was detected in metaphases using conventional cytogenetics, as compared to the one found in interphase nuclei identified with PRINS and FISH techniques. In other words, for these cases, the cells with trisomy 8 or monosomy 7, had a distinct proliferative advantage compared to the disomic cell population. Therefore, to better quantify the proportion of aneuploid cells in bone marrow, we recommend to investigate the frequency of aneuploidy in nuclei using PRINS, rather than studying only the dividing cells as detected by conventional cytogenetic techniques.

Adult↗

PubMed2002

Complex cytogenetic abnormalities including telomeric associations and MEN1 mutation in a pediatric ependymoma.

Ependymomas are neuroectodermal tumors of the brain and spinal cord. Some recurrent cytogenetic aberrations have been reported in these tumors, including alterations involving chromosomes 22, 6, and 11. However, consistent molecular alterations have not been identified in ependymal tumors. We studied a recurrent ependymoma in a 3-year-old patient by standard cytogenetic and molecular analysis of TP53 and MEN1 genes. In the present case, we found many of the cytogenetic features previously described as being recurrent in ependymomas, including unstable telomeric alterations. Furthermore, we detected a novel acquired heterozygous mutation in the MEN1 gene. The chromosomal instability produced by the telomeric alterations and the mutation in the MEN1 gene could be important events in the tumorigenesis of ependymomas.

Base Sequence↗

PubMed2001

Application of molecular cytogenetic techniques in a case study of human cutaneous metastatic melanoma.

Consistent structural chromosome rearrangements have rarely been identified in adult solid tumors. The introduction of advanced molecular cytogenetic techniques has provided new ways of analyzing highly complex karyotypes commonly encountered in these malignancies. This study describes a detailed molecular cytogenetic analysis of a sporadic human cutaneous melanoma biopsy, M92-047, using a combination of G-banding, fluorescence in situ hybridization (FISH), chromosome microdissection, and comparative genomic hybridization (CGH). G-banding revealed that this tumor was composed primarily of closely related near-diploid and near-tetraploid cell subpopulations containing several clonal numerical and structural chromosome alterations. Fluorescence in situ hybridization using whole chromosome painting probes and chromosome arm painting probes, was employed to verify the rearranged chromosomes; dic(1;4), der(8)t(1;8), and der(15)t(6;15), whereas marker chromosomes dic(8;1;16), der(12)t(9;12), and der(17)t(13;17) were discerned by chromosome microdissection and subsequent reverse in situ hybridization (rev ish) analysis. Comparative genomic hybridization illustrated DNA copy number changes in good agreement with the karyotypic analysis. Although this line exhibits recurrent alterations representative of melanoma, two unique breakpoints--1p13 and 8p21--were identified in two different rearranged chromosomes, suggesting potentially important regions for further dissection by molecular genetic techniques. This report demonstrates the advantages of combining multiple techniques in order to obtain a detailed description of cytogenetic changes in melanoma.

Aged↗

PubMed2003

Cytogenetic findings in benign cartilaginous neoplasms.

Cytogenetic analysis has improved our understanding of the histopathogenesis of many benign and malignant bone and soft tissue tumors, as well as served as an important diagnostic adjunct for these pathologic entities. Cytogenetic reports of benign cartilaginous tumors, however, are relatively few. This is unfortunate, as distinguishing benign and malignant cartilaginous neoplasms can often be difficult. In this study, the cytogenetic findings of two enchondromas, two periosteal chondromas, and one soft part chondroma and a review of the literature are reported. Abnormal diploid or near-diploid clones were detected in all specimens analyzed. Although a tumor-specific anomaly did not emerge from these studies, involvement of certain chromosomes/chromosomal regions appears recurrent.

Adolescent↗

PubMed2003

Cytogenetic findings in familial B-cell chronic lymphocytic leukemia: a report of two cases in a family.

Familial B-cell chronic lymphocytic (B-CLL) leukemia has been defined as an entity epidemiologically different from sporadic B-CLL. Cytogenetic abnormalities in familial B-CLL, studied either by conventional cytogenetics or by interphase fluorescence in situ hybridization (i-FISH), have rarely been reported. We report a two-case family affected with B-CLL showing two different abnormal karyotypes detected by conventional cytogenetics [46,XX,del(7)(q32) and 46,XY,add(1)(p36),del(6)(q21)] but sharing a del(13)(q14) at the D13S319 locus, detected by interphase fluorescence in situ hybridization.

Chromosome Aberrations↗

PubMed2003

Nodal marginal zone B-cell lymphoma with a novel t(X;5)(q28;q22): conventional and molecular cytogenetic analysis.

Cytogenetic studies provide important information for the diagnosis and classification of malignant lymphomas that in some cases also has prognostic significance. Furthermore, the investigation of isolated novel cytogenetic findings in malignant lymphoma has led to the discovery of many important oncogenes and tumor suppressor genes. For this reason, a case of nodal marginal zone B-cell lymphoma in a 72-year-old woman is described in which analysis by conventional and molecular cytogenetic techniques demonstrated the presence of a t(X:5)(q28;q22) as the sole chromosomal abnormality. This translocation has not been previously reported in the literature.

Aged↗

PubMed2003

Genetic and cytogenetic observations among different types of ovarian tumors are compatible with a progression model underlying ovarian tumorigenesis.

In this report we present the characterization of ovarian neoplasms including benign tumors, borderline tumors, and invasive carcinomas in order to assess whether a sharing of cytogenetic abnormalities is present in all three types of tumors. A cohort of 114 newly diagnosed and untreated ovarian epithelial tumors were analyzed by cytogenetic and molecular cytogenetic approaches with probes specific for chromosome 6. Three groups of chromosome abnormalities were identified: the first group included abnormalities common to all tumor classes (losses of chromosomes 6, 8, 10, 11, 15, 16, 17, 18, 19, 20, 21, 22, and X; gains of chromosomes 1, 3, 5, and 12; 6q24 approximately qter deletions); the second group presented specific abnormalities present in malignant but not in benign tumors (losses of chromosomes 2, 7, 13, and 14; gains of chromosome 4 and chromosome markers); and the last group included abnormalities unique to invasive carcinomas (loss of chromosome 4; gains of chromosomes 2, 7, 8, 9, 10, 16, 17, 18, 19, 20, and 21; 6q16 approximately q24 deletions; rearrangements of 3p, 3q, 13q, and 21q regions). The presence of shared chromosomal alterations in all three types of ovarian neoplasms investigated in this report seems therefore to suggest a progression model for these types of tumors.

Aneuploidy↗

PubMed2003

Conversion of childhood acute lymphocytic leukemia (L2) with a double t(12;21) to juvenile myelomonocytic leukemia with a novel t(4;11)(p12;q23): a cytogenetic, morphologic, and immunophenotypic study.

Here we describe a cytogenetic and flow-cytometric study of a case in which a conversion of childhood acute lymphocytic leukemia (ALL) into juvenile myelomonocytic leukemia (JMML) occurred. A 3-year-old boy diagnosed CALLA+, pre-B-ALL with double t(12;21) (by fluorescence in situ hybridization analysis), was treated as per the BFM protocol. A cytogenetic analysis performed at 17 months into treatment showed no t(12;21) in bone marrow (BM) cells; however, a novel translocation, namely, t(4;11), involving the p12 locus on chromosome 4 and the MLL gene at 11q23 was detected in monocytes. No cytogenetic abnormalities were found either in Epstein-Barr virus-transformed B cells or in phytohemagglutinin-stimulated T-lymphoid cells. Flow-cytometric analysis demonstrated an asynchronous expression of the antigenic determinants in populations of granulocytic and monocytoid cells: 60% of monocytes expressed low levels of CD14, an unusually high level of CD15, and no CD13 or HLA-DR antigens; 74% of myeloid cells expressed no CD13. Our results indicate that the transformation from B-cell ALL to JMML in this case occurred most probably in the granulocyte-erythroid-macrophage-megakaryocyte progenitor cells without involving the lymphoid cell line. To date, the child is 10 months off therapy and asymptomatic, with t(4;11) in only 3% of the cells.

Bone Marrow↗

PubMed1997

Cytogenetic and molecular genetic analysis of a pediatric pleomorphic sarcoma reveals similarities to adult malignant fibrous histiocytoma.

Cytogenetic and molecular genetic studies were performed on a pleomorphic sarcoma removed from the left atrium of a 15-year-old girl. Histologic analysis was consistent with a storiform-pleomorphic malignant fibrous histiocytoma (MFH). Although MFH is the most common soft-tissue sarcoma of late adulthood. It is extremely rare in childhood and its existence in the pediatric population remains controversial. Cytogenetic analysis revealed several alterations previously associated with adult MFH, including abnormalities of chromosomal bands 11p11 and 19p13. Moreover, the tumor demonstrated homogeneously staining regions (HSR) and double minute chromosomes (dmin) suggestive of gene amplification. We therefore screened the case for amplification of genes localized to chromosomal bands 12q13-14, including the putative protooncogenes MDM2, CDK4, SAS, CHOP, and CLI, which are frequently amplified and overexpressed in adult MFH. Southern and Northern blot analysis confirmed the coamplification of MDM2, CDK4, SAS, and CHOP. To our knowledge, such coamplification studies of the 12q13-14 amplicon have not been previously detected in pediatric MFH. Our results provide cytogenetic and molecular genetic evidence that pediatric and adult MFH are histogenetically related entities.

Adolescent↗

PubMed1997

Use of fluorescence in situ hybridization and comparative genomic hybridization in the cytogenetic analysis of testicular germ cell tumors and uveal melanomas.

Fluorescence in situ hybridization (FISH) with specific DNA probes and comparative genomic hybridization (CGH) are molecular cytogenetic methods that provide powerful supplementations of classical cancer cytogenetics. We present two examples of successful application of these new techniques in solid tumors in which basic information about specific cytogenetic aberrations had been gained previously by conventional karyotyping. In the first, testicular germ cell tumors (TGCT), FISH analysis allowed further characterization of the i(12p) marker chromosome. By CGH, chromosomal subregions that may harbor genes important for tumorigenesis or progression could be identified. In the second, uveal melanoma, CGH enabled a retrospective study in which monosomy 3 was statistically proved to be a relevant marker for poor prognosis.

Chromosome Deletion↗